Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Suppan, C; Graf, R; Jahn, S; Zhou, Q; Klocker, EV; Bartsch, R; Terbuch, A; Kashofer, K; Regitnig, P; Lindenmann, J; Posch, F; Gerritsmann, H; Jost, PJ; Heitzer, E; Dandachi, N; Balic, M.
Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients.
Br J Cancer. 2022; 126(3):456-463
Doi: 10.1038/s41416-021-01601-9
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- Führende Autor*innen der Med Uni Graz
- Balic Marija
- Dandachi Nadia
- Suppan Christoph
- Co-Autor*innen der Med Uni Graz
- Graf Ricarda
- Heitzer Ellen
- Jahn Stephan
- Jost Philipp
- Kashofer Karl
- Klocker Eva Valentina
- Lindenmann Jörg
- Posch Florian
- Regitnig Peter
- Terbuch Angelika
- Zhou Qing
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- Abstract:
- BACKGROUND: The benefit of alpelisib in hormone-receptor-positive (HR+) metastatic breast cancer patients provided clinical evidence for the increasing importance of PIK3CA testing. We performed a comparison of liquid biopsy and tissue-based detection of PIK3CA mutations. MATERIALS AND METHODS: PIK3CA hotspot mutation analysis using a high-resolution SiMSen-Seq assay was performed in plasma from 93/99 eligible patients with HR+/HER2- breast cancer. Additionally, mFAST-SeqS was used to estimate the tumour fractions in plasma samples. In 72/93 patients, matched tissue was available and analysed using a customised Ion Torrent panel. RESULTS: PIK3CA mutations were detected in 48.6% of tissue samples and 47.3% of plasma samples, with identical PIK3CA mutation detected in 24/72 (33.3%) patients both in tissue and plasma. In 10 (13.9%) patients, mutations were only found in plasma, and in 6 (8.3%) patients, PIK3CA mutations found in tissue were not detectable in ctDNA. In 49/93 plasma samples without detectable PIK3CA mutations, 22 (44.9%) samples had elevated tumour fractions, implying true negative results. CONCLUSION: SiMSen-Seq-based detection of PIK3CA mutations in plasma shows advantageous concordance with the tissue analyses. A combination with an untargeted approach for detecting ctDNA fractions may confirm a negative PIK3CA result and enhance the performance of the SiMSen-Seq test.
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